Autism – Causes, Signs and Symptoms

Autism

Also called: Autistic Disorder

Summary

Autism is a developmental disorder of the brain that causes patients to have extreme difficulty communicating and socializing with others. Approximately 560,000 children – about 1 in every 150 – have autism or another autism spectrum disorder (e.g., Asperger’s syndrome,pervasive developmental disorder-not otherwise specified), according to recent findings by the Centers for Disease Control and Prevention (CDC). Some patients with autism are also mentally retarded, whereas others have average to above-average levels of intelligence.

Patients with autism often have difficulty thinking, feeling and speaking. In some cases, the disorder is mild whereas in others, it is severe. Many patients with autism frequently appear to be in their own world, failing to acknowledge the presence of those around them and revealing little or no emotion on their faces. When speaking, patients may use an abnormal tone or rhythm in their conversation. In some cases, patients may not speak at all.

Though the cause of autism is not fully understood, it appears to be the result of abnormalities in several different areas of the brain. Researchers suspect that genetic factors may be at least partially responsible for autism. Some children appear to develop normally for a couple of years before regressing and exhibiting symptoms of autism. Most children who have the disorder begin displaying symptoms by the time they are 18 months old.

Autism can be difficult to diagnose. Children suspected of having autism are likely to be referred to a medical specialist with expertise in treating the condition. Experts from other medical fields may join the autism expert in trying to diagnose the child through direct observation and testing. Consultation with parents about trends in the child’s behavior and the child’s development of social and language skills may also be used to help make a diagnosis. Speech, language and psychological testing may also be performed.

Various treatment methods can help patients better cope with their autism. Psychotherapy can help patients reduce problem behaviors while also teaching them new skills such as improved socialization techniques. Other treatments that may be used with autistic children include speech, physical or occupational therapy. Some patients may also benefit from the use of certain medications.Research continues into identifying the specific genes responsible for autism. In addition, scientists are continuing to test potential new treatments for this disorder.

About autism

Autism is a disorder of the brain that causes patients to have difficulty communicating and socializing with others. Patients may also have difficulty thinking and feeling. Approximately 560,000 children – about 1 in every 150 – have some form of autism,according to recent findings from the Centers for Disease Control and Prevention (CDC).

Autism usually becomes apparent by the time a child is 18 months old, although it is not usually diagnosed until a child is 2 or 3 years of age. In some cases, children may progress normally for the first year or two of life before regressing and displaying the symptoms of autism. Experts do not completely understand how or why this occurs.

Autism is one of five conditions known as pervasive developmental disorders (sometimes collectively referred to as autism spectrum disorders). These conditions – which also include Asperger’s syndrome, childhood disintegrative disorder, Rett syndrome and pervasive developmental disorder-not otherwise specified (PDD-NOS) – all involve problems with social skills, but each have different symptoms.

Frequently, patients with autism also have mental retardation. About seven in 10 children and adolescents who have autism are mentally handicapped, according to the National Mental Health Association. However, this is not always the case, and some patients with autism have normal or even high levels of intelligence despite their difficulties communicating and applying knowledge to day-to-day life situations. Very small numbers of patients are classified as “autistic savants.” This means that they have exceptional skills in one area of life, such as music or mathematics.

Autism is three to four times more common in boys than girls, according to the National Institute of Mental Health. Yet, girls who have the disorder tend to have greater cognitive impairment and more intense symptoms than boys. In recent years, the incidence of autism appears to be increasing in the United States. However, it is not known whether autism itself is becoming more prevalent, or whether changes in diagnostic criteria and improved diagnostic techniques are resulting in more cases being identified.

Children with autism usually need to attend special education classes. Highly structured, specialized programs that meet the specific needs of autistic children are often effective. In some cases, patients with autism may experience improvement in their condition as they grow older. This may allow them to live normal or nearly normal lives. About one-third of patients are able to live at least partially independently, according to the American Psychiatric Association. However, other patients do not improve with time and may actually experience a worsening of behavior problems during adolescence.

Potential causes of autism

Autism cannot be traced to a single cause, but instead appears to be the result of abnormalities in several different areas of the brain. Studies of patients have shown that neurons (brain cells that conduct nerve impulses) in the brain are smaller than normal and may have stunted connections to other areas in the brain. Researchers suspect that genetic factors may be at least partially responsible for autism. About 5 percent of siblings of autistic children also have the disorder, according to the American Psychiatric Association. Children who have fragile X syndrome, tuberous sclerosis (one of two disorders that cause problems in the skin, brain/nervous system and kidneys), untreated phenylketonuria (a condition that can cause severe mental retardation), and congenital rubella syndrome (physical abnormalities in an infant caused by mother’s infection with rubella virus) are at increased risk for also having autism. Speculation of a possible connection between autism and some vaccines, or ingredients in vaccines (e.g., thimerosal) appears to be unfounded, according to the Centers for Disease Control and Prevention (CDC).

Signs and symptoms of autism

In many cases, children with autism may appear to develop normally for months or even years before symptoms appear. Symptoms usually become evident by the time a child is 18 months old.

Symptoms associated with autism may vary dramatically from patient to patient, ranging from mild to severe. Patients who have average to above-average intelligence (measured by an I.Q. test score for normal intelligence or 100) are said to have high-functioning autism, whereas those with lower intelligence levels are said to have low-functioning autism.

Patients with autism tend to communicate poorly and do not interact with other people or the outside world in ways that are considered normal. They may have difficulty making friends and may spend a lot of time alone, typically concentrating intensely on a narrow range of interests. Some patients have serious impairment in cognition (conscious intellectual acts) and may experience delays in language development, including never speaking at all. The eating disorder pica, in which patients consume objects with no nutritional value such as dirt, is more common among children with autism than those without the disorder.

Patients with autism may largely ignore the presence of others, or may lash out at others in unprovoked physical attacks. They may experience increased sensory sensitivity – sounds are louder, lights are brighter and smells are stronger. As a result, they may pull back when others try to hug them or they may be easily startled. Patients may also mutilate or harm themselves or display repetitive behavior such as rocking back and forth, and are often overly concerned with order. About one-third of children with autism also experience seizures, according to the National Institute of Mental Health(NIMH).  

Parents may look for the following signs in the areas of social skills, language and behavior that may indicate autism in a child.

Social skills:

  • Failure to respond when name called
  • Poor eye contact
  • Appears not to hear at times
  • Physically and verbally rejects cuddling and holding
  • Lack of awareness of others’ feelings
  • Prefers to play alone

Language skills:

  • Begins speaking later than normal
  • Uses abnormal tone or rhythm in speech
  • Struggles to start or maintain conversations
  • Repeats words, but does not appear to understand them
  • Masters words and sentences, then later forgets how to say them

Behavior skills:

  • Hyperactivity

  • Engages in repetitive movements

  • Performs routines and rituals; reacts negatively to slightest change in these routines and rituals

  • Fascination with parts of an object (e.g., spinning wheels on a car)

  • Sensitive to light, sound, touch and other sensory stimuli

Autism is often associated with the presence of other mental health disorders, including attention deficit hyperactivity disorder (ADHD), psychosis, depression, obsessive compulsive disorder (OCD) and anxiety disorders.

Although patients with autism may appear cold and aloof, they experience emotions and feel affection for others. Patients simply express these feelings differently than people who do not have autism.

Diagnosis methods for autism

Although there are no standard rules about when autism may first be suspected in a child, parents may become concerned enough to consult a physician if their child does not appear to be developing normally by the age of 18 months.

In addition, a physician may look for signs of autism during a child’s regular checkups. The physician may suspect autism if a child fails to babble, coo or gesture (such as pointing or waving) by the age of 1 year. Children who fail to say single words by 16 months or two-word phrases by 24 months may also elicit concern. Loss of formerly-held language or social skills at any age may be an indicator of the need to screen for autism.

Children with suspected autism are likely to be referred to a specialist with expertise in treating autism. The specialist may work with many other medical professionals – including psychologists, neurologists, psychiatrists, speech therapists and developmental pediatricians – in making a diagnosis.

Autism can be difficult to diagnose. An autism expert will observe the child and consult with the parents about trends in the child’s development of social and language skills, as well as behavior. Speech, language and psychological testing may also be performed.

Children with autism often perform poorly on tests of joint attention. This is a social skill in which two people simultaneously look at an object or watch an event. The ability to follow another person’s gaze or to point at an object is a crucial indicator of developing language and social skills.

Autism is not usually formally diagnosed until the age of 2 or 3. However, it is important that a child receive medical attention as soon as problems become evident, as early intervention can significantly improve functioning and quality of life.

The diagnostic criteria for autism are divided into three categories. Autism is diagnosed if a total of six or more criteria are present from these three categories.

Category one – qualitative impairment in social interaction indicated by at least two of the following:

  • Marked impairment in nonverbal behaviors that are used in social interaction. These include eye contact, facial expressions, body postures and other gestures.

  • Lack of peer relationships appropriate for the patient’s developmental level.

  • Lack of apparent desire to have fun with others, or to seek common interests with others.

  • Lack of “give and take” in social or emotional interactions.

Category two – qualitative impairment of communication as indicated by at least one of the following:

  • Delay in or absence of spoken-language development.

  • Distinct impairment of ability to initiate or sustain conversations.

  • Repetitive and inflexible use of language.

  • Lack of spontaneous and varied “make believe” play.

Category three – repetitive stereotyped patterns of behavior, interests and activities indicated by one of the following:

  • Preoccupation with one or more inflexible and restricted activity patterns. These are abnormal either in intensity or focus.

  • Inflexible commitment to specific and nonfunctional routines and rituals.

  • Repetitive motor mannerisms, such as repeatedly rocking back and forth.

  • Preoccupation with parts of objects, such as focusing on the wheels of a bus.

In addition, patients must have an abnormal level of function in one or more of the following areas before the age of 3: social interaction, language used in social communication and symbolic or imaginative play. Other developmental disorders like Rett syndrome or childhood disintegrative disorder must be ruled out before autism can be diagnosed.

Treatment options for autism

Autism is a disorder rather than a disease, and it cannot be cured. However, various treatment methods can help patients better cope with their autism. Forms of psychotherapy such as behavioral therapy can help patients reduce problem behaviors while learning new skills, such as improved socialization techniques. Special education programs can also help children with autism to improve patterns of speech and learning, as well as to learn basic living skills ranging from cooking to asking others for directions. Other treatments that may be used with autistic children include speech, physical or occupational therapy. Children with autism tend to respond well to structured, specialized and individualized education programs.

Some patients may also benefit from the use of certain medications. Though these drugs cannot treat the core symptoms of autism, they can be used to help reduce related behaviors in some patients. For example, stimulant drugs may be used to treat hyperactivity, antidepressants may be used to control repetitive behaviors and anticonvulsants may be used to treat seizures. Some drugs may be used to treat symptoms of autism in adults, including antidepressant medications and antipsychotic medications. However, these drugs are not used to treat children, as they may cause serious side effects.

Treatments such as art or music therapy, vitamin and mineral supplements, dietary changes and sensory integration (treatment that reduces hypersensitivity to touch or sound) are also sometimes used.

Parents can help their children to better cope with autism by providing structure to the child’s day (e.g., providing consistent messages and creating routines inside and outside the home) and by providing love and support, including verbal praise and other rewards. Support groups and other resources are available for parents, including education that teaches parenting techniques (such as giving instructions visually as well as verbally) that may be especially effective with children who have autism. Some patients with autism have developmental growth spurts at later stages than other children. However, many patients with autism require life-long support from parents and/or residential facilities.

Ongoing research regarding autism

Research continues into identifying the specific genes responsible for autism. Once these genes are revealed, scientists will begin the work of unraveling how these genes are triggered. They will also try to learn about how these genes affect certain areas of the brain and how these genes affect behavior.

Some research suggests that the family members of patients with autism may have mild social, language and reading problems possibly resulting from shared genes that affect these behaviors. Scientists continue to study this potential link in hopes of clarifying it.  Recently, the hormone secretin has received attention as a possible treatment for autism. Researchers are continuing to investigate the possible link between this hormone and improved communication and socialization in patients with autism.

Questions for your doctor regarding autism

Preparing questions in advance can help patients have more meaningful discussions with their physicians regarding their conditions. Parents and patients may wish to ask their doctor the following questions about autism:

  1. What signs should I look for that might indicate autism in my child?

  2. How will you diagnose my child’s autism?

  3. How severe is my child’s autism?

  4. Is my child also mentally retarded?

  5. How will you treat my child’s autism?

  6. Does my child have another mental health condition that is associated with autism?

  7. Which drugs might help treat these conditions?

  8. Where can I receive training or education that might help me to better address my autistic child’s needs?

  9. How likely is it that my child will eventually be able to live independently?

  10. Are there any medications or therapies on the horizon that might help my child?
  11. Are there any clinical studies that my child may benefit from participating in?
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